A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations

Brain and Development

Volumn 33, Issue 1, 2011, Pages 45-48

  Segawa, Yoshie ^a,b   Matsufuji, Mayumi ^a,b   Itokazu, Naoya ^a   Utsunomiya, Hidetsuna ^c   Watanabe, Yoriko ^d   Yoshino, Makoto ^d   Takashima, Sachio ^a,c  

^a Yanagawa Institute for Developmental Disabilities   (Japan)

^b FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c INTERNATIONAL UNIVERSITY OF HEALTH AND WELFARE   (Japan)

^d KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Argininemia; Long term survival; MRI; Multicystic encephalomalacia

Indexed keywords

ANTICONVULSIVE AGENT; ARGINASE; BENZOIC ACID; DNA; ESSENTIAL AMINO ACID; GLUTAMINE; HEMOGLOBIN;

ADULT; ALLELE; ANTICONVULSANT THERAPY; ARTICLE; BRAIN ATROPHY; BRAIN DISEASE; BRAIN VENTRICLE DILATATION; CASE REPORT; CEREBROSPINAL FLUID; CLONIC SEIZURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; EXON; FEMALE; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HUMAN; HYPERAMMONEMIA; HYPERARGININEMIA; MULTICYSTIC ENCEPHALOMALACIA; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PROTEIN RESTRICTION; QUADRIPLEGIA; SURVIVAL;

ADULT; ATROPHY; BRAIN; DIETARY PROTEINS; FEMALE; HUMANS; HYPERAMMONEMIA; HYPERARGININEMIA; MAGNETIC RESONANCE IMAGING; MUTATION; NERVE FIBERS, MYELINATED;

EID: 78650304252     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.03.001     Document Type: Article

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